ISO/TS 4425:2023

Genomics informatics — Data elements and their metadata for describing the microsatellite instability (MSI) information of clinical massive parallel DNA sequencing

Апстракт

This document identifies data elements and metadata to represent the information about microsatellite instability (MSI) for reporting the value of the biomarker using clinical massive parallel DNA sequencing.
This document covers information about the MSI test result and related data, such as used resources, data generation condition, and data processing information which are helpful to clinical diagnosis and research.
This document is not intended
—    for defining experimental protocols or methods for calculating the value of microsatellite instability (MSI),
—    for the other biological species than human resource, or
—    for the Sanger sequencing methods.